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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessTSC2/PKD1 microdeletion syndrome

Request form illness

Summary

Short information

Array diagnostics [or two curated single gene sequence analyses, respectively] according to the clinical suspicion TSC2/PKD1 microdeletion syndrome

ID
TP0390
Number of genes
2 Accredited laboratory test
Examined sequence length
18,4 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

ARR

[NGS +]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
PKD112912NM_001009944.3AR, AD
TSC25424NM_000548.5AD

Informations about the disease

Clinical Comment

PKD-TSC: early-onset severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system)

 

Synonyms
  • AD polycystic kidney disease type 1 with tuberous sclerosis
  • PKD + tuberous sclerosis (TSC2)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined